Canonical Allele Identifier: CA338425670

Gene: CLCN6

Linked Data

• MyVariant Identifiers: chr1:g.11876674A>C (hg19) ; chr1:g.11816617A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11816617A>C , CM000663.2:g.11816617A>C	GRCh38
NC_000001.10:g.11876674A>C , CM000663.1:g.11876674A>C	GRCh37
NC_000001.9:g.11799261A>C	NCBI36
NG_008766.1:g.15468A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000346436.11:c.216A>C MANE Select	ENSP00000234488.9:p.Lys72Asn
ENST00000400892.3:c.216A>C	ENSP00000496938.1:p.Lys72Asn
ENST00000312413.10:c.150A>C	ENSP00000308367.7:p.Lys50Asn
ENST00000346436.10:c.216A>C	ENSP00000234488.9:p.Lys72Asn
ENST00000376490.7:n.216A>C
ENST00000376491.7:n.216A>C
ENST00000376492.3:n.216A>C
ENST00000376496.4:c.216A>C	ENSP00000365679.3:p.Lys72Asn
ENST00000376497.7:c.216A>C	ENSP00000365680.3:p.Lys72Asn
NM_001256959.1:c.150A>C	NP_001243888.1:p.Lys50Asn
NM_001286.3:c.216A>C	NP_001277.1:p.Lys72Asn
NR_046428.1:n.383A>C
NM_001286.4:c.216A>C	NP_001277.1:p.Lys72Asn
NM_001256959.2:c.150A>C	NP_001243888.2:p.Lys50Asn
NM_001286.5:c.216A>C MANE Select	NP_001277.2:p.Lys72Asn
NR_046428.2:n.288A>C